News and Analysis Blog

In a recent issue of medical journal ‘Science Translational Medicine,’ researchers at Duke University reported new developments in the search for a cure of an illness that currently plagues the lives of approximately half a million individuals worldwide.

Spinocerebellar ataxia type 7, or SCA7, is an inherited neurodegenerative disease resulting from an excess of CAG nucleotide repeats in the DNA of a gene called Ataxin-7. Due to their faulty structure, the proteins produced by this gene in SCA7 patients misfold and eventually accumulate in the retina – consequently causing a gradual loss of vision.

While no cure for SCA7 currently exists, the research team at Duke is in the process of testing a new therapy in mice that uses single stranded DNA fragments called antisense oligonucleotides (ASOs) to decrease the effects of the disease. Upon injection into the eye, ASOs detect the faulty RNA that codes for the accumulated proteins and eradicates them before they reach the point of misfolding, which potentially slows or stops SCA7’s progression. After undergoing this new treatment, mice that received ASOs demonstrated improved visual function over time in comparison to mice not receiving the therapy.

While current research involving ASOs is far from conclusive, these initial results not only provide hope to those affected by SCA7, but also to those living with other neurodegenerative illnesses caused by a build-up of misfolded proteins, such as Alzheimer’s and Parkinson’s.

Duke Department of Neurology. (2018, November 1). New study offers hope for patients suffering from a rare form of blindness. ScienceDaily. Retrieved November 10, 2018 from www.sciencedaily.com/releases/2018/11/181101142900.htm